Marfan Syndrome

¡  Marfan syndrome is an inherited disorder that affects connective tissue — the fibers that support and anchor your organs and other structures in your body.

¡  The protein that plays a role in Marfan syndrome is called fibrillin-1.

¡  Marfan syndrome is caused by a defect (or mutation) in the gene that tells the body how to make fibrillin-1.

¡  This mutation causes problems in connective tissues throughout the body.

¡  Features:

¡  Tall and slender build

¡  Disproportionately long arms, legs, fingers and toes

¡  A breastbone that protrudes outward or dips inward

¡  A high, arched palate and crowded teeth

¡  Heart murmurs

¡  Extreme nearsightedness

¡  An abnormally curved spine

¡  Flat feet

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